Allele/Variant

Cacna1atm1Maag

Species
Mus musculus
Symbol
Cacna1atm1Maag
Category
allele
Allele of gene
Cacna1a
Transgenic Constructs
None
Synonyms
  • FHM-1
  • R192Q
Description
The human mutation R192Q (p.R194Q in mouse) was knocked in to exon 4 via homologous recombination along with a floxed neo cassette. Mice carrying both the R194Q and the loxP site flanked neomycin resistance gene cassette were fertile and showed no overt phenotype. The neo cassette was removed through cre-mediated recombination. The presence of the mutation in the resulting animals was confirmed by PCR and restriction enzyme digestion. Semi-quantitative Western blot analysis indicated that the mutant protein was expressed as well as the normal protein.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
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